David Blair, MD, PhD

David Blair, MD PhD is a pediatrician, clinical geneticist, and physician scientist. His research uses population-scale datasets and statistical modeling to analyze the phenotypic diversity observed among patients with rare, genetic disorders. The goal of this work is to reduce diagnostic uncertainty, improve disease-related surveillance, and alter management practices.
Education
06/2022 - Medical Genetics and Genomics, UCSF
06/2020 - Pediatrics, UCSF
MD, 06/2017 - , University of Chicago
PhD, 08/2014 - Genetics, Genomics, and Systems Biology, University of Chicago
BS, 04/2008 - Molecular, Cell, and Developmental Biology, University of Michigan
Honors and Awards
  • Charles J. Epstein Trainee Award for Excellence in Human Genetics Research, American Society of Human Genetics, 2020

  1. Blair DR, Risch N. Dissecting the Reduced Penetrance of Putative Loss-of-Function Variants in Population-Scale Biobanks. medRxiv : the preprint server for health sciences 2024. PMID: 39399029


  2. Garg R, Sullivan J, Blair D, Wallerstein R. KCNK4-related channelopathy causing a neurodevelopmental syndrome. BMJ case reports 2023. PMID: 37931962


  3. Stallworth JY, Blair DR, Slavotinek A, Moore AT, Duncan JL, de Alba Campomanes AG. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency. Ophthalmic genetics 2022. PMID: 36420660


  4. Penon-Portmann M, Blair DR, Harmatz P. Current and new therapies for mucopolysaccharidoses. Pediatrics and neonatology 2022. PMID: 36464587


  5. Galarreta CI, Kennedy C, Blair DR, Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. Volume 188 of Issue 9. American journal of medical genetics. Part A 2022. PMID: 35770347


  6. Blair DR, Hoffmann TJ, Shieh JT. Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. Nature communications 2022. PMID: 35760791


  7. Penon-Portmann M, Chang J, Blair DR, Rodriguez-Alonso B, Cakmak H, Rajkovic A, Shieh JT. Human Embryonic Expression Identifies Novel Essential Gene Candidates bioRxiv 2020. PMID:


  8. Jia G, Li Y, Zhang H, Chattopadhyay I, Boeck Jensen A, Blair DR, Davis L, Robinson PN, Dahlén T, Brunak S, Benson M, Edgren G, Cox NJ, Gao X, Rzhetsky A. Estimating heritability and genetic correlations from large health datasets in the absence of genetic data. Volume 10 of Issue 1. Nature communications 2019. PMID: 31796735


  9. Blair DR, Wang K, Nestorov S, Evans JA, Rzhetsky A. Quantifying the impact and extent of undocumented biomedical synonymy. Volume 10 of Issue 9. PLoS computational biology 2014. PMID: 25255227


  10. Blair DR, Lyttle CS, Mortensen JM, Bearden CF, Jensen AB, Khiabanian H, Melamed R, Rabadan R, Bernstam EV, Brunak S, Jensen LJ, Nicolae D, Shah NH, Grossman RL, Cox NJ, White KP, Rzhetsky A. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Volume 155 of Issue 1. Cell 2013. PMID: 24074861


  11. Blair DR, Funai K, Schweitzer GG, Cartee GD. A myosin II ATPase inhibitor reduces force production, glucose transport, and phosphorylation of AMPK and TBC1D1 in electrically stimulated rat skeletal muscle. Volume 296 of Issue 5. American journal of physiology. Endocrinology and metabolism 2009. PMID: 19190254